List of variants in gene MERTK reported as likely pathogenic for perceptual disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_006343.3(MERTK):c.1296+1G>A	rs774577413	0.00006
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	rs541717028	0.00004
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)	rs878853353	0.00003
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)	rs772421550	0.00002
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)	rs527236084	0.00001
NM_006343.3(MERTK):c.1650del (p.Ile550fs)	rs1252719064	0.00001
NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter)	rs774755041	0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs)	rs527236083	0.00001
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)	rs778383770	0.00001
NM_006343.3(MERTK):c.2360G>A (p.Gly787Asp)	rs747894786	0.00001
NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys)	rs757858711	0.00001
NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del
NM_006343.2(MERTK):c.62_482dup
NM_006343.3(MERTK):c.1296+2dup	rs1681147109
NM_006343.3(MERTK):c.1296+5G>A	rs1553454799
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)	rs776644374
NM_006343.3(MERTK):c.1450+2T>G	rs1573627154
NM_006343.3(MERTK):c.1787-2A>G
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)	rs775776288
NM_006343.3(MERTK):c.2162A>C (p.His721Pro)	rs778005207
NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly)	rs541717028
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly)	rs746238212
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)	rs878853354
NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA	rs1677289241
NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)	rs863224894
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)
NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)	rs786205535
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs)	rs1342715176
NM_006343.3(MERTK):c.368_369del (p.Tyr123fs)	rs1684627892
NM_006343.3(MERTK):c.370C>T (p.Gln124Ter)	rs527236134
NM_006343.3(MERTK):c.56_61+15del	rs2104652801
NM_006343.3(MERTK):c.601_609del (p.Lys201_Pro203del)
NM_006343.3(MERTK):c.604C>T (p.Gln202Ter)	rs1684979540
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)	rs1573592033
NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)
NM_006343.3(MERTK):c.757+1G>A	rs1573592124
NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs)	rs878853355
NM_006343.3(MERTK):c.960+1G>A	rs1573607809

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